Gene Symbol: RD3
OMIM: 180040Chromosome location: 1q32.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Leber congenital amaurosis 12 |
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| Dna Change: | c.112C>T |
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| Protein Change: | p.Arg38X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 2 |
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| Transcript: | NM_183059.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Lebanon | NA | NA | 3 patients/1 families | NA | Perrault I et al., 2013Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM, . Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.. PLoS ONE. 2013; 8(1):e51622 |
| Morocco | NA | NA | 3 patients/2 families | NA | Perrault I et al., 2013Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM, . Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.. PLoS ONE. 2013; 8(1):e51622 |
| Turkey | NA | NA | 3 patients/2 families | NA | Perrault I et al., 2013Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM, . Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.. PLoS ONE. 2013; 8(1):e51622 |
References
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM, Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.PLoS ONE. 2013; 8(1):e51622